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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Congenital Disorder of Glycosylation with Defective Fucosylation 1
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Accession:DOID:9003434 term browser browse the term
Synonyms:exact_synonym: CDGF1
 primary_id: OMIM:618005
For additional species annotation, visit the Alliance of Genome Resources.



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Congenital Disorder of Glycosylation with Defective Fucosylation 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUT8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:29304374 NCBI chr 8:39,670,629...39,972,729
Ensembl chr 8:39,825,246...39,972,612
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14896
    physical disorder 4247
      congenital disorder of glycosylation 301
        Congenital Disorder of Glycosylation with Defective Fucosylation 2
          Congenital Disorder of Glycosylation with Defective Fucosylation 1 1
Path 2
Term Annotations click to browse term
  disease 14896
    Developmental Disease 12206
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10973
        genetic disease 10522
          inherited metabolic disorder 4039
            carbohydrate metabolic disorder 2045
              congenital disorder of glycosylation 301
                Congenital Disorder of Glycosylation with Defective Fucosylation 2
                  Congenital Disorder of Glycosylation with Defective Fucosylation 1 1
paths to the root